Abstract

Background

The role of copy number variation (CNV) has been poorly explored in essential hypertension
in part due to technical difficulties in accurately assessing absolute numbers of
DNA copies. Droplet digital PCR (ddPCR) provides a powerful new approach to CNV quantitation.
The aim of our study was to investigate whether CNVs located in regions previously
associated with blood pressure (BP) variation in genome-wide association studies (GWAS)
were associated with essential hypertension by the use of ddPCR.

Methods

Using a “power of extreme” approach, we quantified nucleic acids using ddPCR in white
subjects from the Victorian Family Heart Study with extremely high (n = 96) and low
(n = 92) SBP, providing power equivalent to 1714 subjects selected at random.

Results

A deletion of the CNVs esv27061 and esv2757747 on chromosome 1p13.2 was significantly
more prevalent in extreme high BP subjects after adjustment for age, body mass index
and sex (12.6% vs. 2.2%; P = 0.013).

Conclusions

Our data suggests that CNVs within regions identified in previous GWAS may play a
role in human essential hypertension.